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Monogenic diabetes : From genetic insights to population-based precision in care. reflections from a diabetes care editors’ expert forum

Individualization of therapy based on a person’s specific type of diabetes is one key element of a “precision medicine” approach to diabetes care. However, applying such an approach remains difficult because of barriers such as disease heterogeneity, difficulties in accurately diagnosing different types of diabetes, multiple genetic influences, incomplete understanding of pathophysiology, limitati

Evaluation of a novel immunoassay to detect p-tau Thr217 in the CSF to distinguish Alzheimer disease from other dementias

OBJECTIVE: To investigate whether tau phosphorylated at Thr217 (p-tau T217) assay in CSF can distinguish patients with Alzheimer disease (AD) from patients with other dementias and healthy controls. METHODS: We developed and validated a novel Simoa immunoassay to detect p-tau T217 in CSF. There was a total of 190 participants from 3 cohorts with AD (n = 77) and other neurodegenerative diseases (n

Understanding the origin of white dwarf atmospheric pollution by dynamical simulations based on detected three-planet systems

Between 25 and 50 per cent of white dwarfs (WD) present atmospheric pollution by metals, mainly by rocky material, which has been detected as gas/dust discs, or in the form of photometric transits in some WDs. Planets might be responsible for scattering minor bodies that can reach stargazing orbits, where the tidal forces of the WD can disrupt them and enhance the chances of debris to fall on to t

SES differences in marital fertility widened during the fertility transition—evidence from global micro‑level population data

The decline in human fertility during the demographic transition is one of the most profound changes to human living conditions. To gain a better understanding of this transition we investigate the association between socioeconomic status (SES) and marital fertility in different fertility regimes in a global and historical perspective. We use data for a large number women in 91 different countries

The composition of the family

The chapter starts with an exploration of what the family is in order then to move on to look at its parts. The family has been defined in terms of its form (e.g. a mother, a father, and their biological offspring) or its function (e.g. adults taking and/or sharing custodial responsibility for children). In both of these cases, children are a necessary ingredient for a unit to be called a family –

Artificial gametes, the unnatural and the artefactual

In debates on the ethics of artificial gametes, concepts of naturalness have been used in a number of different ways. Some have argued that the unnaturalness of artificial gametes means that it is unacceptable to use them in fertility treatments. Others have suggested that artificial gametes are no less natural than many other tissues or processes in common medical use. We suggest that establishin

"My dear Freund" : ett akademiskt levnadsöde

En populärvetenskaplig biografisk artikel över Julius Freund, lektor i tyska vid Lunds universitet 1898–1902, och hans vidare öden som internerad "enemy alien" i Storbritannien under första världskriget och från Nazityskland fördriven judisk akademiker strax innan andra världskriget.

FRMD6 has tumor suppressor functions in prostate cancer

Available tools for prostate cancer (PC) prognosis are suboptimal but may be improved by better knowledge about genes driving tumor aggressiveness. Here, we identified FRMD6 (FERM domain-containing protein 6) as an aberrantly hypermethylated and significantly downregulated gene in PC. Low FRMD6 expression was associated with postoperative biochemical recurrence in two large PC patient cohorts. In

Cross-cultural adaptation, validation and reliability of the spanish satisfaction with daily occupations-occupational balance (Sdo-ob) : An evaluation tool for people with mental disorders

Occupation can be defined as all activities that occupy a person’s time. The Satisfaction with Daily Occupations and Occupational Balance instrument evaluates the perceived satisfaction with performance and the balance in time dedicated to different occupations. The main aim was to translate the original instrument to Spanish and examine and establish the psychometric properties. This is a quantit

Development of an international Core Outcome Set (COS) for best care for the dying person: study protocol

Background: In contrast to typical measures employed to assess outcomes in healthcare such as mortality or recovery rates, it is difficult to define which specific outcomes of care are the most important in caring for dying individuals. Despite a variety of tools employed to assess different dimensions of palliative care, there is no consensus on a set of core outcomes to be measured in the last d

Whole blood co-expression modules associate with metabolic traits and type 2 diabetes: an IMI-DIRECT study

Background: The rising prevalence of type 2 diabetes (T2D) poses a major global challenge. It remains unresolved to what extent transcriptomic signatures of metabolic dysregulation and T2D can be observed in easily accessible tissues such as blood. Additionally, large-scale human studies are required to further our understanding of the putative inflammatory component of insulin resistance and T2D.

Generalized bounds for active subspaces

In this article, we consider scenarios in which traditional estimates for the active subspace method based on probabilistic Poincaré inequalities are not valid due to unbounded Poincaré constants. Consequently, we propose a framework that allows to derive generalized estimates in the sense that it enables to control the trade-off between the size of the Poincaré constant and a weaker order of the

The Problem of Fit in Flood Risk Governance: Regulative, Normative, and Cultural-Cognitive Deliberations

Flood risk is a growing global concern that is not only affecting developing countries, but also the sustainable development of the most affluent liberal democracies. This has attracted attention to the systems governing flood risk across administrative levels, which vary between countries, but are relatively similar in the Nordic region, with both responsibilities and resources largely decentrali